日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Ex Vivo Evaluation of CD3(+)CD8(+) T Cell Subpopulations in Red Blood Cell Concentrates: Does Storage Time Play an Important Role?

体外评估红细胞浓缩液中 CD3(+)CD8(+) T 细胞亚群:储存时间是否起重要作用?

Bal, Salih Haldun; Kumas, Levent Tufan; Cevhertas, Lacin; Yilmaz, Izel; Hiz-Ellergezen, Pinar; Budak-Sener, Ferah; Heper, Yasemin; Oral, Haluk Barbaros

Omnidirectional 3D Printing of PEDOT: PSS Aerogels with Tunable Electromechanical Performance: A Playground for Unconventional Stretchable Interconnects and Thermoelectrics

具有可调机电性能的PEDOT:PSS气凝胶的全方位3D打印:非常规可拉伸互连和热电材料的试验场

Baysal, Hasan Emre; Yu, Tzu-Yi; Naenen, Viktor; De Smedt, Stijn; Hiz, Defne; Zhang, Bokai; Xia, Heyi; Florenciano, Isidro; Rosenthal, Martin; Cardinaels, Ruth; Molina-Lopez, Francisco

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

SUN-202 Nerve Conduction Studies May Predict the Natural Course of Mild Subclinical Hypothyroidism in Children

SUN-202 神经传导研究可能预测儿童轻度亚临床甲状腺功能减退症的自然病程

Ran, Haifeng; Yu, Qiane; Hu, Yue; Cui, Jiaqi; Huang, Kexin; Xie, Yuxin; Li, Xuhong; Hu, Jie; Liu, Heng; Zhang, Tijiang; Navardauskaite, Ruta; Denaite, Dovile; Sukys, Marius; Traberg, Rasa; Jarusevicius, Paulius; Çatlı, Gönül; Besci, Ozge; Hale, Tuhan Ünver; Ayanoğlu, Müge; Hiz, Semra A; Böber, Ece; Abacı, Ayhan; Yiş, Uluç

Machine Learning-Based Validation of LDHC and SLC35G2 Methylation as Epigenetic Biomarkers for Food Allergy

基于机器学习的LDHC和SLC35G2甲基化作为食物过敏表观遗传生物标志物的验证

Kiliçarslan, Sabire; Çiçekliyurt, Meliha Merve Hiz; Kiliçarslan, Serhat; Hassan, Dina S M; Samee, Nagwan Abdel; Kurtoglu, Ahmet

Phenotypic variability in cases with CACNA1A mutation

CACNA1A突变病例的表型变异性

Bozkaya-Yilmaz, Sema; Olgac-Dundar, Nihal; Aliyeva, Nargiz; Ersen, Atilla; Gencpinar, Pinar; Gungor, Mesut; Hiz, Ayse Semra; Yis, Uluc; Sarikaya-Uzan, Gamze; Sarigecili, Esra; Kirik, Serkan; Erol, Ilknur; Besen, Seyda; Kayilioglu, Hulya; Haspolat, Senay; Kipoglu, Osman; Ekici, Arzu; Turay, Sevim; Tosun, Ayse; Ayanoglu, Muge; Danis, Aysegul; Hancı, Fatma; Kutbay, Yasar Bekir; Ozyilmaz, Berk; Kara, Bulent

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

NAA60双等位基因变异导致N端乙酰化能力受损,从而引起常染色体隐性遗传性原发性家族性脑钙化。

Viorica Chelban #,Henriette Aksnes #,Reza Maroofian,Lauren C LaMonica,Luis Seabra,Anette Siggervåg,Perrine Devic,Hanan E Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M Natalia Zanetti,Rauan Kaiyrzhanov  ,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V Schottlaender    ,Heba Morsy  ,Annarita Scardamaglia,Ambreen Tariq,Alistair T Pagnamenta,Ajia Pennavaria,Liv S Krogstad,Åse K Bekkelund,Alessia Caiella,Nina Glomnes  ,Kirsten M Brønstad,Sandrine Tury,Andrés Moreno De Luca  0 ,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim    ,Benjamin Cretin    ,Barbara Vona  ,Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller    ,Sahar I Da'as  ,Khalid A Fakhro    ,Alicia Gómez-Pascual,Juan A Botía,Nicholas W Wood  0 ,Rita Horvath,Andreas M Ernst  ,James E Rothman  ,Meriel McEntagart,Yanick J Crow  ,Fowzan S Alkuraya  ,Gaël Nicolas  ; SYNaPS Study Group; Thomas Arnesen  ,Henry Houlden

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study

对诊断为脑桥小脑发育不全的患者进行评估:一项多中心全国性研究

Cavusoglu, Dilek; Ozturk, Gulten; Turkdogan, Dilsad; Kurul, Semra Hiz; Yis, Uluc; Komur, Mustafa; Incecik, Faruk; Kara, Bulent; Sahin, Turkan; Unver, Olcay; Dilber, Cengiz; Mert, Gulen Gul; Gunay, Cagatay; Uzan, Gamze Sarikaya; Ersoy, Ozlem; Oktay, Yavuz; Mermer, Serdar; Tuncer, Gokcen Oz; Gungor, Olcay; Ozcora, Gul Demet Kaya; Gumus, Ugur; Sezer, Ozlem; Cetin, Gokhan Ozan; Demir, Fatma; Yilmaz, Arzu; Gurbuz, Gurkan; Topcu, Meral; Topaloglu, Haluk; Ceylan, Ahmet Cevdet; Ceylaner, Serdar; Gleeson, Joseph G; Icagasioglu, Dilara Fusun; Sonmez, F Mujgan

Neuromuscular disease genetics in under-represented populations: increasing data diversity

神经肌肉疾病遗传学在代表性不足人群中的研究:提高数据多样性

Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo S S; Raga, Sharika; Naidu, Kireshnee; Köken, Özlem Yayıcı; Polat, Ipek; Kapapa, Musambo M; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J L F; Reyaz, Alisha; Mishra, Rinkle; Töpf, Ana; Trainor, Christina I; Steyn, Elizabeth C; Mahungu, Amokelani C; van der Vliet, Patrick J; Ceylan, Ahmet Cevdet; Hiz, A Semra; Çavdarlı, Büşranur; Semerci Gündüz, C Nur; Ceylan, Gülay Güleç; Nagappa, Madhu; Tallapaka, Karthik B; Govindaraj, Periyasamy; van der Maarel, Silvère M; Narayanappa, Gayathri; Nandeesh, Bevinahalli N; Wa Somwe, Somwe; Bearden, David R; Kvalsund, Michelle P; Ramdharry, Gita M; Oktay, Yavuz; Yiş, Uluç; Topaloğlu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M; Heckmann, Jeannine M; McFarland, Robert; Taylor, Robert W; Smuts, Izelle; van der Westhuizen, Francois H; Sobreira, Claudia Ferreira da Rosa; Tomaselli, Pedro J; Marques, Wilson Jr; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M V Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F; Pitceathly, Robert D S; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M; Hanna, Michael G

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

ESAM紧密连接基因的双等位基因变异会导致一种与胎儿颅内出血相关的神经发育障碍。

Lecca, Mauro; Pehlivan, Davut; Suñer, Damià Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, María Angeles; Bauzá, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R; Errichiello, Edoardo